case report | Q2782326 |
scholarly article | Q13442814 |
P50 | author | Arnold Munnich | Q2863363 |
Stanislas Lyonnet | Q7598948 | ||
Valérie Cormier-Daire | Q28321938 | ||
Tania Attié-Bitach | Q28322360 | ||
Michel Vekemans | Q28322364 | ||
Sophie Saunier | Q28322375 | ||
Christine Bôle-Feysot | Q28354378 | ||
Caroline Alby | Q30170322 | ||
Françoise Clerget-Darpoux | Q30501400 | ||
Patrick Nitschké | Q45929076 | ||
Celine Huber | Q57167171 | ||
Sophie Thomas | Q79318101 | ||
Mathilde Nizon | Q87994766 | ||
Marine Legendre | Q89413428 | ||
Nadia Elkhartoufi | Q114438719 | ||
Bettina Bessières | Q117252660 | ||
Ferechté Encha-Ravazi | Q117252672 | ||
Amale Ichkou | Q117252702 | ||
P2093 | author name string | Laurence Faivre | |
Kevin Piquand | |||
Meriem Garfa-Traore | |||
Hajnalka Szabó | |||
László Sztriha | |||
Nicole Laurent | |||
Fanny Pelluard | |||
Salima El Chehadeh-Djebbar | |||
André Megarbané | |||
Georges Abi-Tayeh | |||
Marion Failler | |||
Melinda Zombor | |||
P2860 | cites work | TCTN3 mutations cause Mohr-Majewski syndrome | Q24295300 |
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome | Q24308784 | ||
Centriole distal appendages promote membrane docking, leading to cilia initiation | Q24310904 | ||
The Talpid3 gene (KIAA0586) encodes a centrosomal protein that is essential for primary cilia formation | Q24316483 | ||
The CP110-interacting proteins Talpid3 and Cep290 play overlapping and distinct roles in cilia assembly | Q24319889 | ||
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes | Q24625476 | ||
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome | Q24680812 | ||
CP110 and its network of partners coordinately regulate cilia assembly | Q28000138 | ||
Generation of mice with functional inactivation of talpid3, a gene first identified in chicken | Q28592864 | ||
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability | Q34000871 | ||
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes | Q34183496 | ||
The chicken talpid3 gene encodes a novel protein essential for Hedgehog signaling | Q34653671 | ||
Targeted mutation of the talpid3 gene in zebrafish reveals its conserved requirement for ciliogenesis and Hedgehog signalling across the vertebrates | Q35445369 | ||
Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds. | Q37360655 | ||
Ciliary disorder of the skeleton | Q38026010 | ||
Clinical genetics and pathobiology of ciliary chondrodysplasias. | Q38288347 | ||
Loss of cilia causes embryonic lung hypoplasia, liver fibrosis, and cholestasis in the talpid3 ciliopathy mutant. | Q41819809 | ||
Estimating the age of rare disease mutations: the example of Triple-A syndrome. | Q43073641 | ||
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. | Q53174375 | ||
P433 | issue | 2 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | polydactyly | Q371520 |
short rib – polydactyly syndrome | Q4420146 | ||
P304 | page(s) | 311-318 | |
P577 | publication date | 2015-07-09 | |
P1433 | published in | American Journal of Human Genetics | Q4744249 |
P1476 | title | Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome | |
P478 | volume | 97 |
Q57149575 | A distal centriolar protein network controls organelle maturation and asymmetry |
Q48937473 | A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome |
Q38802675 | A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders |
Q39552140 | An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome. |
Q52098087 | Association studies of low-frequency coding variants in nonsyndromic cleft lip with or without cleft palate. |
Q64115593 | CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis |
Q63681390 | Cellular ciliary phenotyping indicates pathogenicity of novel variants in and confirms a Mainzer-Saldino syndrome diagnosis |
Q38994215 | Ciliopathies |
Q37281697 | Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome |
Q55003855 | Disease-Associated Mutations in CEP120 Destabilize the Protein and Impair Ciliogenesis. |
Q46609776 | Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. |
Q39429623 | Genes and molecular pathways underpinning ciliopathies |
Q29147558 | IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome |
Q93146892 | Identification of novel mutations in preaxial polydactyly patients through whole-exome sequencing |
Q92692779 | Mice with a conditional deletion of Talpid3 (KIAA0586) - a model for Joubert syndrome |
Q39012190 | Motile and non-motile cilia in human pathology: from function to phenotypes |
Q37235765 | Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes |
Q37747558 | Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia. |
Q29147550 | Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes |
Q88869535 | Neurocristopathies: New insights 150 years after the neural crest discovery |
Q39176551 | Photoreceptor Cilia and Retinal Ciliopathies |
Q39018423 | Primary Cilia and Mammalian Hedgehog Signaling |
Q47228439 | Primary cilia proteins: ciliary and extraciliary sites and functions. |
Q39178653 | Sonic Hedgehog Signaling in Limb Development |
Q94545038 | Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report |
Q94521055 | TALPID3 and ANKRD26 selectively orchestrate FBF1 localization and cilia gating |
Q40522835 | TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23) |
Q36874254 | Tethering of an E3 ligase by PCM1 regulates the abundance of centrosomal KIAA0586/Talpid3 and promotes ciliogenesis |
Q48113259 | The ciliopathy protein TALPID3/KIAA0586 acts upstream of Rab8 activation in zebrafish photoreceptor outer segment formation and maintenance. |
Q89809828 | The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature review |
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